MCID: SLL003
MIFTS: 44

Salla Disease malady

Categories: Genetic diseases, Rare diseases, Metabolic diseases

Aliases & Classifications for Salla Disease

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Aliases & Descriptions for Salla Disease:

Name: Salla Disease 49 11 45 22 51 67 24
Sialic Acid Storage Disease, Finnish Type 65
Sialuria, Finnish Type 45
 
Finnish Type Sialuria 67
Sd 67

Characteristics:

Orphanet epidemiological data:

51
salla disease:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy; Age of death: normal life expectancy

HPO:

61
salla disease:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 604369
Orphanet51 309334
ICD10 via Orphanet28 E77.8
MedGen34 C1096903
UMLS65 C1096903

Summaries for Salla Disease

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NIH Rare Diseases:45 Salla disease is the mildest form of the free sialic acid storage disorders, which primarily affect the nervous system. infants with salla disease typically begin to experience poor muscle tone (hypotonia) during the first year of life, followed by slowly progressive neurological problems. signs and symptoms include intellectual disability and developmental delay; seizures; ataxia; muscle spasticity; and involuntary slow movements of the limbs (athetosis). about one-third of affected children learn to walk. it is caused by mutations in the slc17a5 gene and is inherited in an autosomal recessive manner. treatment is generally symptomatic and supportive. last updated: 10/14/2011

MalaCards based summary: Salla Disease, also known as sialic acid storage disease, finnish type, is related to sialic acid storage disorder, infantile and intermediate severe salla disease, and has symptoms including thickened calvaria, inability to walk and athetosis. An important gene associated with Salla Disease is SLC17A5 (Solute Carrier Family 17 Member 5), and among its related pathways are Tuberculosis and Phagosome. Affiliated tissues include breast, brain and kidney.

UniProtKB/Swiss-Prot:67 Salla disease: Sialic acid storage disease (SASD). SASDs are autosomal recessive neurodegenerative disorders characterized by hypotonia, cerebellar ataxia and mental retardation. They are caused by a defect in the metabolism of sialic acid which results in increased urinary excretion of unconjugated sialic acid, specifically N-acetylneuraminic acid. Enlarged lysosomes are seen on electron microscopic studies. Clinical symptoms of SD present usually at age less than 1 year and progression is slow.

OMIM:49 Sialic acid storage diseases are autosomal recessive neurodegenerative disorders that may present as a severe infantile... (604369) more...

Wikipedia:68 Salla disease (SD), also called sialic acid storage disease or Finnish type sialuria, is an autosomal... more...

Related Diseases for Salla Disease

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Diseases in the Salla Disease family:

Intermediate Severe Salla Disease

Diseases related to Salla Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 59)
idRelated DiseaseScoreTop Affiliating Genes
1sialic acid storage disorder, infantile29.3LAMP1, LAMP2, SLC17A5
2intermediate severe salla disease12.5
3hemoglobin sd12.3
4shwachman-diamond syndrome11.9
5trichohepatoenteric syndrome 111.5
6sandhoff disease, infantile, juvenile, and adult forms11.3
7free sialic acid storage disorders10.5
8neural tube defects10.4
9alcoholic hepatitis10.4
10sialidosis, type i10.3
11microcephaly 1, primary, autosomal recessive10.3
12macrocephaly/autism syndrome10.3
13desbuquois dysplasia 110.3
14microcephaly 2, primary, autosomal recessive, with or without cortical malformations10.3
15wandering spleen10.3
16endotheliitis10.3
17prostatitis10.2
18rheumatoid arthritis10.1
19myocardial infarction10.1
20obesity10.1
21hodgkin lymphoma10.1
22aplastic anemia10.1
23attention deficit-hyperactivity disorder10.1
24leprosy10.1
25celiac disease10.1
26chondrosarcoma10.1
27neuronal ceroid-lipofuscinoses10.1
28alcohol abuse10.1
29anal fistula10.1
30arthritis10.1
31cataract10.1
32focal segmental glomerulosclerosis10.1
33gastric cancer10.1
34glomerulosclerosis10.1
35lymphoma10.1
36atrial fibrillation10.1
37blastoma10.1
38tuberculoid leprosy10.1
39heart disease10.1
40hypertensive heart disease10.1
41esophagitis10.1
42botulism10.1
43poems syndrome10.1
44intestinal perforation10.1
45vulvovaginitis10.1
46nail disease10.1
47pulmonary blastoma10.1
48myoepithelial carcinoma10.1
49epithelial-myoepithelial carcinoma10.1
50adenomatoid tumor10.1

Graphical network of the top 20 diseases related to Salla Disease:



Diseases related to salla disease

Symptoms for Salla Disease

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Symptoms by clinical synopsis from OMIM:

604369

Clinical features from OMIM:

604369

HPO human phenotypes related to Salla Disease:

(show all 16)
id Description Frequency HPO Source Accession
1 thickened calvaria HP:0002684
2 inability to walk HP:0002540
3 athetosis HP:0002305
4 abnormality of metabolism/homeostasis HP:0001939
5 vacuolated lymphocytes HP:0001922
6 growth delay HP:0001510
7 global developmental delay HP:0001263
8 dysarthria HP:0001260
9 spasticity HP:0001257
10 muscular hypotonia HP:0001252
11 ataxia HP:0001251
12 seizures HP:0001250
13 intellectual disability HP:0001249
14 delayed speech and language development HP:0000750
15 nystagmus HP:0000639
16 exotropia HP:0000577

Drugs & Therapeutics for Salla Disease

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Salla Disease

Genetic Tests for Salla Disease

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Genetic tests related to Salla Disease:

id Genetic test Affiliating Genes
1 Salla Disease22 SLC17A5

Anatomical Context for Salla Disease

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MalaCards organs/tissues related to Salla Disease:

33
Breast, Brain, Kidney, Lung, Ovary, Prostate, Skin

Animal Models for Salla Disease or affiliated genes

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MGI Mouse Phenotypes related to Salla Disease:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes

Publications for Salla Disease

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Articles related to Salla Disease:

(show all 48)
idTitleAuthorsYear
1
Impact of contra-lateral breast reshaping on mammographic surveillance in women undergoing breast reconstruction following mastectomy for breast cancer. (25866351)
2015
2
OK-432 sclerotherapy of lymphatic malformation in the head and neck: factors related to outcome. (24569928)
2014
3
Elevated miR-29a expression is not correlated with disease activity index in PBMCs of patients with ankylosing spondylitis. (23632741)
2013
4
Prevention of hepatocellular carcinoma in chronic viral hepatitis B and C infection. (24379612)
2013
5
The clinical course of patients with IgG4-related kidney disease. (23698232)
2013
6
Pathogenetic importance of proinflammatory cytokines in the formation and progression of fibrosis in alcoholic hepatitis]. (24294778)
2013
7
Shear stress modulates VCAM-1 expression in response to TNF-I+ and dietary lipids via interferon regulatory factor-1 in cultured endothelium. (23934855)
2013
8
Association of HFE Gene Mutations With Liver Cirrhosis Depends on Induction of Iron Homeostasis Disturbances. (22550532)
2012
9
Expression and activation of STAT family proteins in cerebral arteriovenous malformations. (22381273)
2012
10
Renal cell carcinoma with novel VCL-ALK fusion: new representative of ALK-associated tumor spectrum. (21076462)
2011
11
Bilharzia of the breast masquerading as a breast skin papilloma in a pregnant woman. (22353277)
2011
12
Paranasal ossifying fibroma: endoscopic resection or wait and scan? (21298389)
2011
13
Sexually transmitted brucellosis in humans. (20550455)
2010
14
Association of polymorphisms in AKT1 and EGFR with clinical outcome and toxicity in non-small cell lung cancer patients treated with gefitinib. (20159991)
2010
15
Brain metastases from prostate adenocarcinoma. (19155207)
2009
16
Symptomatic osteochondroma of the spine in elderly patients. Report of 3 cases. (19569943)
2009
17
New roads to FA/BRCA pathway: H2AX. (17471025)
2007
18
The dipeptidyl peptidase IV inhibitor vildagliptin suppresses endogenous glucose production and enhances islet function after single-dose administration in type 2 diabetic patients. (17244786)
2007
19
Overexpression and nuclear translocation of hypoxia-inducible factor prolyl hydroxylase PHD2 in head and neck squamous cell carcinoma is associated with tumor aggressiveness. (16489060)
2006
20
Cannabinoid receptor CB2 modulates the CXCL12/CXCR4-mediated chemotaxis of T lymphocytes. (16503355)
2006
21
Melanocytes in the corneal limbus interact with K19-positive basal epithelial cells. (16080916)
2005
22
Epithelioid leiomyosarcoma of the ovary. (15863185)
2005
23
Expression of allograft inflammatory factor-1 and haeme oxygenase-1 in brains of rats infected with the neurotropic Borna disease virus. (16150122)
2005
24
Homocysteine attenuates the expression of osteocalcin but enhances osteopontin in MC3T3-E1 preosteoblastic cells. (15878736)
2005
25
Different mechanisms of protective and differentiative activities of homological peptides TGENHR and TQVEHR. (15377265)
2004
26
Expression of matrix metalloproteinases in supraglottic carcinoma and its clinical implication for estimating lymph node metastases. (15564854)
2004
27
Aurora-B phosphorylation in vitro identifies a residue of survivin that is essential for its localization and binding to inner centromere protein (INCENP) in vivo. (14610074)
2004
28
Thoracic neurenteric cyst in a 60 year old male. (15472450)
2004
29
Brain-derived neurotrophic factor is stored in human platelets and released by agonist stimulation. (12008958)
2002
30
Time course of nitric oxide synthase generation after gluten exposure in the rectal mucosa of gluten-sensitive patients. (11145285)
2000
31
VEGF via VEGF receptor-1 (Flt-1) mimics preeclamptic plasma in inhibiting uterine blood vessel relaxation in pregnancy: implications in the pathogenesis of preeclampsia. (10496528)
1999
32
The DD genotype of the angiotensin-converting enzyme gene occurs in very low frequency in Australian Aboriginals. (10328464)
1999
33
Studies on the effects of astrocyte during glial scar formation by recombinant antisense GFAP retrovirus]. (12532806)
1999
34
Age-related changes in cobalamin (vitamin B12) handling. Implications for therapy. (9571392)
1998
35
Interferon-alpha 2b therapy in low-activity hepatitis C: a pilot study. (9438325)
1997
36
Down regulation of protein kinase C during growth enhancement induced by interleukin-6 on a human myeloma cell line, KMS-11. (8913277)
1996
37
Novel genetic association between ulcerative colitis and the anti-inflammatory cytokine interleukin-1 receptor antagonist. (8119534)
1994
38
The diagnosis and treatment of baroreflex failure. (8413455)
1993
39
T1 snapshot FLASH measurement of rat brain glioma: kinetics of the tumor-enhancing contrast agent manganese (III) tetraphenylporphine sulfonate. (1461108)
1992
40
Exclusion of calcitonin/alpha-CGRP gene defect in a family with autosomal dominant supravalvular aortic stenosis. (1552547)
1992
41
Alveolar soft part sarcoma presenting as a pulsating tumour of the arm in a young woman. (1506158)
1992
42
The typing of Legionella pneumophila strains by using monoclonal antibodies to the cytolysin]. (1858465)
1991
43
Structural analysis and expression of human desmoglein: a cadherin- like component of the desmosome. (1770008)
1991
44
Orbital decompression in vision-threatening endocrine-related orbital disease. (2261169)
1990
45
Human fascioliasis (distomatosis) (6389708)
1984
46
Acute renal failure in essential mixed cryoglobulinemia: precipitation and reversal by plasma exchange. (6733996)
1984
47
Increased oxygen affinity for hemoglobin Sawara: alphaA4(6) aspartic acid replaced by alanine. (20980)
1977
48

Variations for Salla Disease

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UniProtKB/Swiss-Prot genetic disease variations for Salla Disease:

67
id Symbol AA change Variation ID SNP ID
1SLC17A5p.Arg39CysVAR_018684
2SLC17A5p.Lys136GluVAR_018685

Clinvar genetic disease variations for Salla Disease:

5 (show all 14)
id Gene Variation Type Significance SNP ID Assembly Location
1SLC17A5NM_012434.4(SLC17A5): c.409delA (p.Met137Cysfs)deletionLikely pathogenicrs794729653GRCh37Chr 6, 74351530: 74351530
2SLC17A5NM_012434.4(SLC17A5): c.406A> G (p.Lys136Glu)single nucleotide variantLikely pathogenic, Pathogenicrs80338795GRCh37Chr 6, 74351533: 74351533
3SLC17A5NM_012434.4(SLC17A5): c.115C> T (p.Arg39Cys)single nucleotide variantPathogenicrs80338794GRCh37Chr 6, 74354306: 74354306
4SLC17A5SLC17A5, 15-BP DEL, NT802deletionPathogenic
5SLC17A5NM_012434.4(SLC17A5): c.1007_1008delTA (p.Leu336Trpfs)deletionLikely pathogenicrs386833987GRCh37Chr 6, 74325141: 74325142
6SLC17A5NM_012434.4(SLC17A5): c.1138_1139delGT (p.Val380Serfs)deletionLikely pathogenicrs386833988GRCh37Chr 6, 74320243: 74320244
7SLC17A5NM_012434.4(SLC17A5): c.1226G> A (p.Gly409Glu)single nucleotide variantLikely pathogenicrs386833989GRCh37Chr 6, 74320156: 74320156
8SLC17A5NM_012434.4(SLC17A5): c.291G> A (p.Thr97=)single nucleotide variantLikely pathogenicrs386833990GRCh37Chr 6, 74354130: 74354130
9SLC17A5NM_012434.4(SLC17A5): c.309G> A (p.Trp103Ter)single nucleotide variantLikely pathogenicrs386833991GRCh37Chr 6, 74351630: 74351630
10SLC17A5NM_012434.4(SLC17A5): c.507delA (p.Leu170Terfs)deletionLikely pathogenicrs386833992GRCh37Chr 6, 74351432: 74351432
11SLC17A5NM_012434.4(SLC17A5): c.719G> A (p.Trp240Ter)single nucleotide variantLikely pathogenicrs386833993GRCh37Chr 6, 74345205: 74345205
12SLC17A5NM_012434.4(SLC17A5): c.802_816delTCATCATTAAGAAAT (p.Ser268_Asn272del)deletionLikely pathogenicrs386833994GRCh37Chr 6, 74345108: 74345122
13SLC17A5NM_012434.4(SLC17A5): c.95-1G> Csingle nucleotide variantLikely pathogenicrs386833995GRCh37Chr 6, 74354327: 74354327
14SLC17A5NM_012434.4(SLC17A5): c.983G> A (p.Gly328Glu)single nucleotide variantLikely pathogenicrs386833996GRCh37Chr 6, 74325166: 74325166

Expression for genes affiliated with Salla Disease

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Search GEO for disease gene expression data for Salla Disease.

Pathways for genes affiliated with Salla Disease

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Pathways related to Salla Disease according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.1LAMP1, LAMP2
29.1LAMP1, LAMP2
39.1LAMP1, LAMP2
48.5LAMP1, LAMP2, SLC17A5

GO Terms for genes affiliated with Salla Disease

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Cellular components related to Salla Disease according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1lysosomeGO:00057649.4LAMP1, LAMP2
2integral component of plasma membraneGO:00058879.3LAMP1, SLC17A5
3lysosomal membraneGO:00057658.8LAMP1, LAMP2

Molecular functions related to Salla Disease according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1protein domain specific bindingGO:00199049.1LAMP1, LAMP2

Sources for Salla Disease

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet